ClinVar

NM_000551.4(VHL):c.508G>C (p.Val170Leu)

Genes:

LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10149831 (on Assembly GRCh38)
• Chr3: 10191515 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.508G>C (p.Val170Leu)

HGVS:

• NC_000003.12:g.10149831G>C
• NG_008212.3:g.13197G>C
• NG_046756.1:g.7593G>C
• NM_000551.4:c.508G>CMANE SELECT
• NM_001354723.2:c.*62G>C
• NM_198156.3:c.385G>C
• NP_000542.1:p.Val170Leu
• NP_937799.1:p.Val129Leu
• LRG_322:g.13197G>C
• NC_000003.11:g.10191515G>C
• NM_198156.2:c.385G>C

This HGVS expression did not pass validation

Protein change:

V129L

Links:

dbSNP: rs1553620326

NCBI 1000 Genomes Browser:

rs1553620326

Molecular consequence:

• NM_001354723.2:c.*62G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000551.4:c.508G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198156.3:c.385G>C - missense variant - [Sequence Ontology: SO:0001583]